Metaphyseal Chondrodysplasia with cone-Shaped Epiphyses, Normal Hair, and Normal Hands is an extremely rare condition, characterized by a characteristic metaphyseal chondrodysplasia with cup-shaped metaphyses of the knees. The molecular genetic etiology for this condition is not known.
Kozlowski et al. (1995) described a lebanese boy with short stature, limitation of joint movements, and radiographic knee abnormalities born to healthy non-consanguienous parents. The patient had, in addition, slight coning of the right distal radial epiphysis.